Use 8192 bp final-position variant windows
Browse files
README.md
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@@ -80,7 +80,16 @@ Dataset-wide provenance summary:
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"single nucleotide variant": 6000
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},
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"window_bp": {
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"
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},
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"benchmark_exclusion_status": {
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"checked": 6000
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}
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```
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The `all_tasks` config has 6,000 task rows but 4,000 unique variant keys. The `binary` and `clinvar_levels` configs are two views of the same 2,000 clinical-classification variants; `pathogenic_pairwise` contributes 2,000 additional pathogenic or likely pathogenic variants.
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Unique variant chromosome distribution across `all_tasks`:
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### `binary`
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The prompt shows the reference allele, alternate allele, and
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```text
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benign or likely benign
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"single nucleotide variant": 6000
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},
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"window_bp": {
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"8192": 6000
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},
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"variant_window_placement": {
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"final": 6000
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},
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"variant_index_0based": {
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"8191": 6000
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},
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"variant_position_1based": {
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"8192": 6000
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},
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"benchmark_exclusion_status": {
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"checked": 6000
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}
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```
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Every prompt sequence is 8,192 bp long. The variant is placed at the final base of the sequence context: `variant_index_0based = 8191`, equivalent to `variant_position_1based = 8192`.
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The `all_tasks` config has 6,000 task rows but 4,000 unique variant keys. The `binary` and `clinvar_levels` configs are two views of the same 2,000 clinical-classification variants; `pathogenic_pairwise` contributes 2,000 additional pathogenic or likely pathogenic variants.
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Unique variant chromosome distribution across `all_tasks`:
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### `binary`
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The prompt shows the reference allele, alternate allele, and an 8,192 bp DNA sequence window containing the alternate allele at the final base of the context. The model is asked to answer with exactly one option:
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```text
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benign or likely benign
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all_tasks/train-00000-of-00001.jsonl
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binary/train-00000-of-00001.jsonl
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clinvar_levels/train-00000-of-00001.jsonl
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pathogenic_pairwise/train-00000-of-00001.jsonl
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